nsv6723588
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:157
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 107 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6723588 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 141,062,836 | 141,062,992 | ||
nsv6723588 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 140,781,678 | 140,781,834 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18473852 | deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18473852 | Submitted genomic | NC_000003.12:g.141 062836_141062992de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 141,062,836 | 141,062,992 | ||
nssv18473852 | Remapped | Perfect | NC_000003.11:g.140 781678_140781834de l | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 140,781,678 | 140,781,834 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv18473852 | 0.012 | 2851 | 251636 |